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Article

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Human genomics - 5 Oct 2023

Lee Mianne, Lui Adrian C Y, Chan Joshua C K, Doong Phoenix H L, Kwong Anna K Y, Mak Christopher C Y, Li Raymond H W, Kan Anita S Y, Chung Brian H Y

Abstract excerpt

Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%. In this study, parents whose children had previously been diagnosed with developmental disorders with an apparent de novo variant were recruited. Peripheral blood,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37798624
DOI: 10.1186/s40246-023-00535-y
PMCID: PMC10557286

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